Symbol
| HNF1B
| contributors: mct/npt/pgu - updated : 20-04-2010
|
HGNC name
| HNF1 homeobox B
|
HGNC id
| 11630
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
| LOH
|  
|  
|
in chromophobe renal cell cancer through PKHD1 expression control | tumoral
|  
|  
| --over
|  
|
in clear cell carcinoma of the ovary | constitutional
|  
| deletion
|  
|  
|
leading to haploinsufficiency and affecting a diverse spectrum of CAKUT (congenital anomalies of the kidney and urinary tract) ![](pubmed.jpg) | |
Susceptibility
|
to prostate cancer |
Variant & Polymorphism
SNP
| two independent prostate cancer risk loci |
|
|
Candidate gene
Marker
Therapy target
| | | |
| heterozygous mice for Hnf1b and Pax2 null alleles display phenotypes similar to severe congenital anomalies of the kidney and the urinary tract (CAKUT), including strong hypoplasia of the kidneys, caudal ectopic aborted ureter buds, duplex kidneys, megaureters and hydronephrosis ![](pubmed.jpg) |